Delayed speech and language development, and Stereotypy

Diseases related with Delayed speech and language development and Stereotypy

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Stereotypy that can help you solving undiagnosed cases.


Top matches:

Medium match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Obesity
  • Severe global developmental delay


SOURCES: MESH MONDO UMLS OMIM

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: MESH MONDO UMLS OMIM

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: OMIM MONDO UMLS

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO GARD OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Low match AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Seizures
  • Nevus
  • Delayed speech and language development
  • Tics
  • Autism


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Low match SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

Low match SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM Is also known as ;asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO OMIM UMLS

More info about SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

Low match MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: GARD MONDO UMLS ORPHANET OMIM

More info about MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Stereotypy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Stereotypy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Impaired use of nonverbal behaviors Restrictive behavior Inflexible adherence to routines or rituals Lack of peer relationships Lack of spontaneous play Multifactorial inheritance Absent speech Autosomal recessive inheritance Increased serum serotonin Sporadic Childhood onset X-linked inheritance EEG abnormality Heterogeneous

Rare Symptoms - Less than 30% cases


Congenital onset Generalized myoclonic seizures Hypsarrhythmia Delayed myelination Irritability Arrhythmia Hyperactivity Self-injurious behavior Attention deficit hyperactivity disorder Aggressive behavior Behavioral abnormality Obesity Hyperreflexia Short stature Pica Spasticity Uveitis Delayed gross motor development Obsessive-compulsive behavior Drooling Hip dysplasia Febrile seizures Proportionate short stature Language impairment Abnormality of the cerebral white matter Truncus arteriosus Open mouth Babinski sign Cerebral atrophy Hypoplasia of the corpus callosum Microcephaly Spastic tetraplegia Progressive microcephaly Inability to walk Short nose Poor speech Anxiety Intellectual disability, moderate Prominent forehead Oxycephaly Retrognathia Macrocephaly Apraxia Downslanted palpebral fissures Failure to thrive Strabismus Nystagmus Hypertelorism Decreased light- and dark-adapted electroretinogram amplitude Broad nasal tip Patent foramen ovale Involuntary movements Abnormal heart morphology Athetosis Cognitive impairment Progressive spasticity Impulsivity Spastic diplegia Poor head control Lower limb spasticity Choreoathetosis Muscular hypotonia of the trunk Respiratory insufficiency Progressive Disturbance of facial expression Anterior plagiocephaly Overweight Polyphagia Facial asymmetry Severe global developmental delay Feeding difficulties Respiratory distress Patent ductus arteriosus Schizophrenia Abnormality of cardiovascular system morphology Atrial septal defect Ventricular septal defect Intraventricular hemorrhage Eclampsia Preeclampsia Hemiplegia Autistic behavior Encephalopathy Tics Nevus Bruxism Infantile spasms Atonic seizures Epileptic encephalopathy Generalized tonic-clonic seizures Death in infancy Large forehead



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Renal hypoplasia, related diseases and genetic alterations Fever and Frontal bossing, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more